ArticleMolecular genetics & genomic medicine2020
Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 19 citations in OpenAlex.
- Genetic Insights Into Hyaline Fibromatosis Syndrome: A Case Report of an ANTXR2 Mutation Featuring a Rare Variant c.697+1G>A.Clinical case reports · 2025Article
- Multisystemic Manifestations of Hyaline Fibromatosis Syndrome: Implications for Diagnosis and Management.Cureus · 2023Article
- Hypercalcemia as a rare presentation of hyaline fibromatosis syndrome from different Sudanese families: two case reports.Journal of medical case reports · 2023Article
- Femur fracture in a paediatric patient with hereditary hyaline fibromatosis syndrome.BMJ case reports · 2022Article
- Update of pediatric soft tissue tumors with review of conventional MRI appearance-part 1: tumor-like lesions, adipocytic tumors, fibroblastic and myofibroblastic tumors, and perivascular tumors.Skeletal radiology · 2022Review
- Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHyaline fibromatosis syndrome is an autosomal recessive disease caused by mutations in ANTXR2 which leads to loss of function of the transmembrane protein anthrax toxin receptor 2. It is distinguished by characteristic skin lesions, gingival hyperplasia, joint and bone disease, and systemic involvement.
methodsBased on the case of an 11-year-old female patient with typical features of hyaline fibromatosis syndrome and the underlying pathogenic compound heterozygote variants in ANTXR2 we discuss the genetic and clinical aspects of hyaline fibromatosis syndrome.
resultsThe novel mutation in ANTXR2 (c.1223T>C, p.Leu408Pro variant) seems to allow for a protracted course of the disease.
conclusionOur findings add to the phenotypic, genetic, and biochemical spectrum of hyaline fibromatosis syndrome.
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